SLC16A2 Chromosome X
Solute carrier family 16 member 2
Upload your DNA to see your personal genotypes for variants in SLC16A2.
What This Gene Does
This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Solute carrier family 16
Locus Type
gene with protein product
Location
Xq13.2
Ensembl
ENSG00000147100
Associated Conditions (12)
Inborn genetic diseases
Spastic paraplegia
Intellectual disability
Hereditary spastic paraplegia
SLC16A2-related disorder
History of neurodevelopmental disorder
Allan-Herndon-Dudley syndrome
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Decreased activity of the pyruvate dehydrogenase complex
Key Variants
RS1052769515
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS140303247
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS144755294
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Intellectual disability
Health Risk
RS145061343
Conflicting classifications of pathogenicity
Spastic paraplegia, Intellectual disability, Hereditary spastic paraplegia
Health Risk
RS147814121
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS199904356
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS201039304
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, Spastic paraplegia, History of neurodevelopmental disorder
Health Risk
RS371961817
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS375483786
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS398124232
Conflicting classifications of pathogenicity
Health Risk
RS727504155
Conflicting classifications of pathogenicity
Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome
Health Risk
RS745998356
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894931 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894938 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894939 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894940 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS113994166 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS122455132 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Intellectual disability, Allan-Herndon-Dudley syndrome |
| RS1310705934 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1380635081 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1555979596 | Health Risk | Pathogenic | Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases |
| RS1555979604 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555989364 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1555989375 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1555989715 | Health Risk | Pathogenic | — |
| RS1555989729 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1555989846 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1555990320 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569280986 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1569281085 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome |
| RS1569281190 | Health Risk | Pathogenic | — |
| RS1602099961 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome |
| RS1602140936 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Thyroid cancer, nonmedullary |
| RS1602143383 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1602143432 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS1930398120 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome |
| RS1930458591 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1930459512 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1930463806 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2147833779 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2147833883 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2147869490 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Nonpapillary renal cell carcinoma, Allan-Herndon-Dudley syndrome |
| RS2147870613 | Health Risk | Pathogenic | — |
| RS2147870614 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2147871831 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519759046 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519759057 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519759087 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519759427 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2519806555 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome |
| RS2519806818 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519806849 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2519806877 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS2519810129 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS587784382 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS587784386 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS759410438 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS766773277 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Spastic paraplegia, Allan-Herndon-Dudley syndrome |
| RS794726932 | Health Risk | Pathogenic | — |
| RS797045962 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS797045963 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS797045965 | Health Risk | Pathogenic | Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |